A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9659369



Internal ID12721610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974579..98974598hg38UCSC Ensembl
Innerchr12:98974575..98974602hg38UCSC Ensembl
Outerchr12:98974556..98974621hg38UCSC Ensembl
chr12:99368357..99368376hg19UCSC Ensembl
Innerchr12:99368353..99368380hg19UCSC Ensembl
Outerchr12:99368334..99368399hg19UCSC Ensembl
chr12:97892488..97892507hg18UCSC Ensembl
Innerchr12:97892511..97892484hg18UCSC Ensembl
Outerchr12:97892465..97892530hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391324
Supporting Variants
SamplesNA07346
Known GenesANKS1B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9659369
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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